Clinical characteristics and outcomes of patients by cytogenetic subgroup
| Chromosome modal number and complexity* . | N (%) . | Age at diagnosis (y) . | Sex . | 5-y EFS . | 5-y OS . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Median (range) . | P . | Female: N (%) . | P . | EFS ± SE (%) . | HR (95% CI) . | P . | OS ± SE (%) . | HR (95% CI) . | P . | ||
| Modal number | .003 | .141 | .077 | .002 | |||||||
| Normal karyotype | 49 (13.2) | 1.45 (0.10-15.46) | 21 (42.9) | 27.3 ± 7.8 | 26.4 ± 7.5 | ||||||
| Hypodiploid (≤45) | 18 (4.8) | 2.97 (0.39-15.01) | 11 (61.1) | 27.8 ± 10.6 | 1.039 (0.550-1.964) | 33.3 ± 11.1 | 1.009 (0.523 - 1.944) | ||||
| Pseudodiploid (46) | 119 (32.0) | 1.20 (0.03-13.63) | 66 (55.5) | 41.2 ± 5.7 | 0.860 (0.573-1.291) | 44.8 ± 5.6 | 0.745 (0.493 - 1.126) | ||||
| 47-50 chromosomes | 142 (38.2) | 1.73 (0.08-15.29) | 66 (46.5) | 51.4 ± 5.0 | 0.614 (0.408-0.924) | 58.9 ± 5.0 | 0.463 (0.303 - 0.707) | (<.001) | |||
| >50 chromosomes | 44 (11.8) | 1.66 (0.62-6.54) | 28 (63.6) | 52.3 ± 8.3 | 0.653 (0.380-1.123) | 56.6 ± 8.3 | 0.520 (0.297 - 0.911) | (.022) | |||
| Complexity | .161 | .243 | .361 | .031 | |||||||
| 1 aberration | 92 (24.7) | 1.28 (0.03-15.29) | 55 (59.8) | 42.6 ± 6.2 | 0.833 (0.543-1.277) | 47.2 ± 6.2 | 0.705 (0.456 - 1.092) | ||||
| 2 aberrations | 49 (13.2) | 1.96 (0.13-11.69) | 26 (53.1) | 44.3 ± 8.3 | 0.768 (0.464-1.269) | 52.0 ± 8.5 | 0.612 (0.361 - 1.036) | (.067) | |||
| 3 aberrations | 32 (8.6) | 1.57 (0.41-15.01) | 15 (46.9) | 45.0 ± 10.6 | 0.735 (0.411-1.312) | 44.3 ± 10.5 | 0.679 (0.380 - 1.213) | ||||
| 4 aberrations | 40 (10.8) | 1.55 (0.10-4.90) | 16 (40.0) | 55.0 ± 9.2 | 0.558 (0.316-0.986) | 66.7 ± 8.8 | 0.371 (0.196 - 0.703) | (.002) | |||
| ≥5 aberrations | 109 (29.3) | 1.51 (0.25-11.32) | 59 (54.1) | 48.4 ± 5.6 | 0.680 (0.445-1.038) | 53.7 ± 5.8 | 0.549 (0.355 - 0.848) | (.007) | |||
| Chromosome modal number and complexity* . | N (%) . | Age at diagnosis (y) . | Sex . | 5-y EFS . | 5-y OS . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Median (range) . | P . | Female: N (%) . | P . | EFS ± SE (%) . | HR (95% CI) . | P . | OS ± SE (%) . | HR (95% CI) . | P . | ||
| Modal number | .003 | .141 | .077 | .002 | |||||||
| Normal karyotype | 49 (13.2) | 1.45 (0.10-15.46) | 21 (42.9) | 27.3 ± 7.8 | 26.4 ± 7.5 | ||||||
| Hypodiploid (≤45) | 18 (4.8) | 2.97 (0.39-15.01) | 11 (61.1) | 27.8 ± 10.6 | 1.039 (0.550-1.964) | 33.3 ± 11.1 | 1.009 (0.523 - 1.944) | ||||
| Pseudodiploid (46) | 119 (32.0) | 1.20 (0.03-13.63) | 66 (55.5) | 41.2 ± 5.7 | 0.860 (0.573-1.291) | 44.8 ± 5.6 | 0.745 (0.493 - 1.126) | ||||
| 47-50 chromosomes | 142 (38.2) | 1.73 (0.08-15.29) | 66 (46.5) | 51.4 ± 5.0 | 0.614 (0.408-0.924) | 58.9 ± 5.0 | 0.463 (0.303 - 0.707) | (<.001) | |||
| >50 chromosomes | 44 (11.8) | 1.66 (0.62-6.54) | 28 (63.6) | 52.3 ± 8.3 | 0.653 (0.380-1.123) | 56.6 ± 8.3 | 0.520 (0.297 - 0.911) | (.022) | |||
| Complexity | .161 | .243 | .361 | .031 | |||||||
| 1 aberration | 92 (24.7) | 1.28 (0.03-15.29) | 55 (59.8) | 42.6 ± 6.2 | 0.833 (0.543-1.277) | 47.2 ± 6.2 | 0.705 (0.456 - 1.092) | ||||
| 2 aberrations | 49 (13.2) | 1.96 (0.13-11.69) | 26 (53.1) | 44.3 ± 8.3 | 0.768 (0.464-1.269) | 52.0 ± 8.5 | 0.612 (0.361 - 1.036) | (.067) | |||
| 3 aberrations | 32 (8.6) | 1.57 (0.41-15.01) | 15 (46.9) | 45.0 ± 10.6 | 0.735 (0.411-1.312) | 44.3 ± 10.5 | 0.679 (0.380 - 1.213) | ||||
| 4 aberrations | 40 (10.8) | 1.55 (0.10-4.90) | 16 (40.0) | 55.0 ± 9.2 | 0.558 (0.316-0.986) | 66.7 ± 8.8 | 0.371 (0.196 - 0.703) | (.002) | |||
| ≥5 aberrations | 109 (29.3) | 1.51 (0.25-11.32) | 59 (54.1) | 48.4 ± 5.6 | 0.680 (0.445-1.038) | 53.7 ± 5.8 | 0.549 (0.355 - 0.848) | (.007) | |||
| Representative chromosome subgroups† . | N (%) . | Age at diagnosis (y) . | Sex . | 5-y EFS . | 5-y OS . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Median (range) . | P . | Female: N (%) . | P . | EFS ± SE (%) . | HR (95% CI) . | P . | OS ± SE (%) . | HR (95% CI) . | P . | ||
| Normal karyotype | 49 (13.2) | 1.45 (0.10-15.46) | 21 (42.9) | 27.3 ± 7.8 | 1.376 (0.956-1.981) | .086 | 26.4 ± 7.5 | 1.688 (1.167-2.441) | .005 | ||
| Trisomy 1 | 16 (4.3) | 1.13 (0.79-2.70) | 10 (62.5) | 25.0 ± 10.8 | 1.645 (0.918-2.948) | .095 | 25.0 ± 10.8 | 1.789 (0.996-3.213) | .051 | ||
| t(1;22)(p13;q13) | 51 (13.7) | 0.55 (0.03-6.25) | < .001 | 33 (64.7) | .050 | 54.5 ± 8.0 | 0.813 (0.531-1.244) | 58.2 ± 7.7 | 0.811 (0.519-1.265) | ||
| t(1;22), balanced only | 38 (10.2) | 0.39 (0.03-1.81) | < .001 | 25 (65.8) | .086 | 63.2 ± 9.0 | 0.660 (0.390-1.116) | 68.2 ± 8.4 | 0.632 (0.360-1.112) | ||
| t(1;22), unbalanced | 13 (3.5) | 1.13 (0.79-6.25) | 8 (61.5) | 30.8 ± 12.8 | 1.329 (0.682-2.593) | 30.8 ± 12.8 | 1.369 (0.701-2.675) | ||||
| Abnormality in 3q21q26 | 14 (3.8) | 1.61 (0.70-10.72) | 3 (21.4) | .028 | 64.3 ± 12.8 | 0.518 (0.213-1.259) | 64.3 ± 12.8 | 0.588 (0.242-1.430) | |||
| Deletion of 5q | 7 (1.9) | 2.43 (1.66-8.20) | .026 | 2 (28.6) | 57.1 ± 21.6 | 0.635 (0.203-1.985) | 64.3 ± 22.2 | 0.424 (0.105-1.708) | |||
| Trisomy 6 | 58 (15.6) | 1.28 (0.18-8.20) | 33 (56.9) | 39.2 ± 7.9 | 1.167 (0.811-1.679) | 50.1 ± 8.1 | 0.962 (0.643-1.437) | ||||
| Monosomy 7 | 13 (3.5) | 4.17 (0.39-15.01) | .006 | 6 (46.2) | 15.4 ± 10.0 | 1.924 (1.047-3.534) | .035 | 23.1 ± 11.7 | 2.276 (1.202-4.309) | .012 | |
| Abnormality of 7p | 43 (11.6) | 1.77 (0.51-8.20) | 19 (44.2) | 74.1 ± 8.0 | 0.350 (0.191-0.642) | .001 | 76.7 ± 7.9 | 0.307 (0.157-0.599) | .001 | ||
| Abnormality of 7q | 31 (8.3) | 1.99 (0.70-4.85) | .031 | 13 (41.9) | 63.5 ± 11.1 | 0.501 (0.273-0.919) | .026 | 67.0 ± 10.7 | 0.452 (0.231-0.883) | .020 | |
| Trisomy 8 | 77 (20.7) | 1.66 (0.25-15.29) | 41 (53.2) | 51.4 ± 6.2 | 0.774 (0.542-1.104) | 59.0 ± 6.3 | 0.681 (0.463-1.001) | .051 | |||
| Abnormality of 8q | 20 (5.4) | 1.55 (0.76-11.28) | 8 (40.0) | 64.0 ± 11.6 | 0.557 (0.262-1.184) | 71.4 ± 11.5 | 0.431 (0.177-1.048) | .063 | |||
| Abnormality of 9p, other than t(9;11) | 9 (2.4) | 2.10 (1.12-4.90) | .046 | 6 (66.7) | 22.2 ± 11.3 | 1.979 (0.930-4.208) | .076 | 22.2 ± 11.3 | 2.553 (1.198-5.438) | .015 | |
| Abnormality of 9q | 23 (6.2) | 1.78 (0.66-13.62) | .052 | 11 (47.8) | 52.2 ± 12.0 | 0.755 (0.411-1.385) | 59.2 ± 12.6 | 0.730 (0.374-1.425) | |||
| Trisomy 10 | 27 (7.3) | 1.77 (0.18-8.20) | 15 (55.6) | 55.3 ± 10.7 | 0.681 (0.380-1.221) | 64.2 ± 10.7 | 0.537 (0.275-1.050) | .069 | |||
| Abnormality of 11p | 18 (4.8) | 1.41 (0.18-12.58) | 10 (55.6) | 27.8 ± 10.6 | 1.605 (0.915-2.817) | .099 | 37.0 ± 12.0 | 1.368 (0.744-2.516) | |||
| Abnormality of 11q | 57 (15.3) | 1.83 (0.48-13.63) | .083 | 30 (52.6) | 34.9 ± 7.3 | 1.362 (0.955-1.945) | .088 | 39.7 ± 7.5 | 1.309 (0.902-1.898) | ||
| Abnormality of 11q23 | 38 (10.2) | 1.77 (0.59-13.63) | 21 (55.3) | 28.5 ± 9.1 | 1.632 (1.088-2.447) | .018 | 32.4 ± 9.4 | 1.548 (1.015-2.360) | .043 | ||
| t(9;11)(p22;q23) | 21 (5.6) | 1.41 (0.72-3.98) | 10 (47.6) | 17.1 ± 7.8 | 1.929 (1.173-3.171) | .010 | 17.1 ± 7.8 | 2.130 (1.292-3.514) | .003 | ||
| Other 11q23 | 17 (4.6) | 2.05 (0.59-13.63) | 11 (64.7) | 41.2 ± 15.8 | 1.223 (0.648-2.309) | 52.9 ± 16.2 | 0.932 (0.459-1.892) | ||||
| Abnormality of 12p | 16 (4.3) | 1.45 (0.84-8.54) | 6 (37.5) | 31.2 ± 13.0 | 1.197 (0.652-2.197) | 47.4 ± 15.4 | 1.110 (0.546-2.253) | ||||
| Monosomy 13 | 7 (1.9) | 1.12 (0.65-11.32) | 6 (85.7) | NA‡ | 3.433 (1.514-7.784) | .003 | 28.6 ± 17.1 | 2.202 (0.904-5.360) | .082 | ||
| Deletion of 13q | 16 (4.3) | 1.50 (0.56-4.90) | 5 (31.3) | 18.8 ± 9.8 | 1.850 (1.054-3.245) | .032 | 29.2 ± 12.3 | 1.805 (0.980-3.322) | .058 | ||
| Monosomy 15 | 7 (1.9) | 1.17 (0.81-2.04) | 5 (71.4) | 14.3 ± 9.4 | 2.914 (1.289-6.586) | .010 | 14.3 ± 9.4 | 2.133 (0.946-4.809) | .068 | ||
| Trisomy 19 | 93 (25.0) | 1.44 (0.25-6.54) | 41 (44.1) | .096 | 48.3 ± 5.8 | 0.903 (0.654-1.248) | 52.9 ± 5.9 | 0.898 (0.638-1.263) | |||
| Trisomy 21 | 106 (28.5) | 1.72 (0.08-8.20) | 48 (45.3) | 47.9 ± 5.8 | 0.882 (0.648-1.200) | 52.7 ± 5.9 | 0.803 (0.579-1.113) | ||||
| Abnormality of Xq | 15 (4.0) | 1.39 (0.48-7.32) | 9 (60.0) | 20.0 ± 8.9 | 1.796 (1.002-3.218) | .049 | 32.0 ± 11.8 | 1.498 (0.792-2.833) | |||
| Chromosome 49-65, numerical or structural | 52 (14.0) | 1.41 (0.49-6.54) | 25 (48.1) | 59.6 ± 7.3 | 0.631 (0.402-0.991) | .046 | 64.8 ± 7.1 | 0.588 (0.362-0.956) | .032 | ||
| Representative chromosome subgroups† . | N (%) . | Age at diagnosis (y) . | Sex . | 5-y EFS . | 5-y OS . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Median (range) . | P . | Female: N (%) . | P . | EFS ± SE (%) . | HR (95% CI) . | P . | OS ± SE (%) . | HR (95% CI) . | P . | ||
| Normal karyotype | 49 (13.2) | 1.45 (0.10-15.46) | 21 (42.9) | 27.3 ± 7.8 | 1.376 (0.956-1.981) | .086 | 26.4 ± 7.5 | 1.688 (1.167-2.441) | .005 | ||
| Trisomy 1 | 16 (4.3) | 1.13 (0.79-2.70) | 10 (62.5) | 25.0 ± 10.8 | 1.645 (0.918-2.948) | .095 | 25.0 ± 10.8 | 1.789 (0.996-3.213) | .051 | ||
| t(1;22)(p13;q13) | 51 (13.7) | 0.55 (0.03-6.25) | < .001 | 33 (64.7) | .050 | 54.5 ± 8.0 | 0.813 (0.531-1.244) | 58.2 ± 7.7 | 0.811 (0.519-1.265) | ||
| t(1;22), balanced only | 38 (10.2) | 0.39 (0.03-1.81) | < .001 | 25 (65.8) | .086 | 63.2 ± 9.0 | 0.660 (0.390-1.116) | 68.2 ± 8.4 | 0.632 (0.360-1.112) | ||
| t(1;22), unbalanced | 13 (3.5) | 1.13 (0.79-6.25) | 8 (61.5) | 30.8 ± 12.8 | 1.329 (0.682-2.593) | 30.8 ± 12.8 | 1.369 (0.701-2.675) | ||||
| Abnormality in 3q21q26 | 14 (3.8) | 1.61 (0.70-10.72) | 3 (21.4) | .028 | 64.3 ± 12.8 | 0.518 (0.213-1.259) | 64.3 ± 12.8 | 0.588 (0.242-1.430) | |||
| Deletion of 5q | 7 (1.9) | 2.43 (1.66-8.20) | .026 | 2 (28.6) | 57.1 ± 21.6 | 0.635 (0.203-1.985) | 64.3 ± 22.2 | 0.424 (0.105-1.708) | |||
| Trisomy 6 | 58 (15.6) | 1.28 (0.18-8.20) | 33 (56.9) | 39.2 ± 7.9 | 1.167 (0.811-1.679) | 50.1 ± 8.1 | 0.962 (0.643-1.437) | ||||
| Monosomy 7 | 13 (3.5) | 4.17 (0.39-15.01) | .006 | 6 (46.2) | 15.4 ± 10.0 | 1.924 (1.047-3.534) | .035 | 23.1 ± 11.7 | 2.276 (1.202-4.309) | .012 | |
| Abnormality of 7p | 43 (11.6) | 1.77 (0.51-8.20) | 19 (44.2) | 74.1 ± 8.0 | 0.350 (0.191-0.642) | .001 | 76.7 ± 7.9 | 0.307 (0.157-0.599) | .001 | ||
| Abnormality of 7q | 31 (8.3) | 1.99 (0.70-4.85) | .031 | 13 (41.9) | 63.5 ± 11.1 | 0.501 (0.273-0.919) | .026 | 67.0 ± 10.7 | 0.452 (0.231-0.883) | .020 | |
| Trisomy 8 | 77 (20.7) | 1.66 (0.25-15.29) | 41 (53.2) | 51.4 ± 6.2 | 0.774 (0.542-1.104) | 59.0 ± 6.3 | 0.681 (0.463-1.001) | .051 | |||
| Abnormality of 8q | 20 (5.4) | 1.55 (0.76-11.28) | 8 (40.0) | 64.0 ± 11.6 | 0.557 (0.262-1.184) | 71.4 ± 11.5 | 0.431 (0.177-1.048) | .063 | |||
| Abnormality of 9p, other than t(9;11) | 9 (2.4) | 2.10 (1.12-4.90) | .046 | 6 (66.7) | 22.2 ± 11.3 | 1.979 (0.930-4.208) | .076 | 22.2 ± 11.3 | 2.553 (1.198-5.438) | .015 | |
| Abnormality of 9q | 23 (6.2) | 1.78 (0.66-13.62) | .052 | 11 (47.8) | 52.2 ± 12.0 | 0.755 (0.411-1.385) | 59.2 ± 12.6 | 0.730 (0.374-1.425) | |||
| Trisomy 10 | 27 (7.3) | 1.77 (0.18-8.20) | 15 (55.6) | 55.3 ± 10.7 | 0.681 (0.380-1.221) | 64.2 ± 10.7 | 0.537 (0.275-1.050) | .069 | |||
| Abnormality of 11p | 18 (4.8) | 1.41 (0.18-12.58) | 10 (55.6) | 27.8 ± 10.6 | 1.605 (0.915-2.817) | .099 | 37.0 ± 12.0 | 1.368 (0.744-2.516) | |||
| Abnormality of 11q | 57 (15.3) | 1.83 (0.48-13.63) | .083 | 30 (52.6) | 34.9 ± 7.3 | 1.362 (0.955-1.945) | .088 | 39.7 ± 7.5 | 1.309 (0.902-1.898) | ||
| Abnormality of 11q23 | 38 (10.2) | 1.77 (0.59-13.63) | 21 (55.3) | 28.5 ± 9.1 | 1.632 (1.088-2.447) | .018 | 32.4 ± 9.4 | 1.548 (1.015-2.360) | .043 | ||
| t(9;11)(p22;q23) | 21 (5.6) | 1.41 (0.72-3.98) | 10 (47.6) | 17.1 ± 7.8 | 1.929 (1.173-3.171) | .010 | 17.1 ± 7.8 | 2.130 (1.292-3.514) | .003 | ||
| Other 11q23 | 17 (4.6) | 2.05 (0.59-13.63) | 11 (64.7) | 41.2 ± 15.8 | 1.223 (0.648-2.309) | 52.9 ± 16.2 | 0.932 (0.459-1.892) | ||||
| Abnormality of 12p | 16 (4.3) | 1.45 (0.84-8.54) | 6 (37.5) | 31.2 ± 13.0 | 1.197 (0.652-2.197) | 47.4 ± 15.4 | 1.110 (0.546-2.253) | ||||
| Monosomy 13 | 7 (1.9) | 1.12 (0.65-11.32) | 6 (85.7) | NA‡ | 3.433 (1.514-7.784) | .003 | 28.6 ± 17.1 | 2.202 (0.904-5.360) | .082 | ||
| Deletion of 13q | 16 (4.3) | 1.50 (0.56-4.90) | 5 (31.3) | 18.8 ± 9.8 | 1.850 (1.054-3.245) | .032 | 29.2 ± 12.3 | 1.805 (0.980-3.322) | .058 | ||
| Monosomy 15 | 7 (1.9) | 1.17 (0.81-2.04) | 5 (71.4) | 14.3 ± 9.4 | 2.914 (1.289-6.586) | .010 | 14.3 ± 9.4 | 2.133 (0.946-4.809) | .068 | ||
| Trisomy 19 | 93 (25.0) | 1.44 (0.25-6.54) | 41 (44.1) | .096 | 48.3 ± 5.8 | 0.903 (0.654-1.248) | 52.9 ± 5.9 | 0.898 (0.638-1.263) | |||
| Trisomy 21 | 106 (28.5) | 1.72 (0.08-8.20) | 48 (45.3) | 47.9 ± 5.8 | 0.882 (0.648-1.200) | 52.7 ± 5.9 | 0.803 (0.579-1.113) | ||||
| Abnormality of Xq | 15 (4.0) | 1.39 (0.48-7.32) | 9 (60.0) | 20.0 ± 8.9 | 1.796 (1.002-3.218) | .049 | 32.0 ± 11.8 | 1.498 (0.792-2.833) | |||
| Chromosome 49-65, numerical or structural | 52 (14.0) | 1.41 (0.49-6.54) | 25 (48.1) | 59.6 ± 7.3 | 0.631 (0.402-0.991) | .046 | 64.8 ± 7.1 | 0.588 (0.362-0.956) | .032 | ||
CI, confidence interval; EFS, event-free survival; HR, hazard ratio; OS, overall survival; SE, standard error.
For modal number and complexity, P values were obtained with the comparison of all factors. HR and P value in parentheses were derived from comparison with normal karyotype.
For chromosome subgroups, HR and P values were obtained by comparing particular subgroup with others and only P values < .1 are listed.
3-year event-free survival: 14.3% ± 13.2%